RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa D Sharon, MA Sandberg, VW Rabe, M Stillberger, TP Dryja, EL Berson The American Journal of Human Genetics 73 (5), 1131-1146, 2003 | 251 | 2003 |
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia JL Zambonin, A Bellomo, H Ben-Pazi, DB Everman, LM Frazer, ... Orphanet journal of rare diseases 12, 1-8, 2017 | 56 | 2017 |
The epilepsy genetics initiative: systematic reanalysis of diagnostic exomes increases yield Epilepsy Genetics Initiative, SF Berkovic, DB Goldstein, EL Heinzen, ... Epilepsia 60 (5), 797-806, 2019 | 49 | 2019 |
TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype S Donkervoort, M Papadaki, JM De Winter, MB Neu, J Kirschner, V Bolduc, ... Annals of neurology 78 (6), 982-994, 2015 | 49 | 2015 |
Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn Y Wada, MA Sandberg, TL McGee, MA Stillberger, EL Berson, TP Dryja Investigative ophthalmology & visual science 46 (5), 1735-1741, 2005 | 47 | 2005 |
Psychosocial management of the patient with Duchenne muscular dystrophy MK Colvin, J Poysky, K Kinnett, M Damiani, M Gibbons, J Hoskin, ... Pediatrics 142 (Supplement_2), S99-S109, 2018 | 45 | 2018 |
Expression of the Arf tumor suppressor gene is controlled by Tgfβ2 during development NE Freeman-Anderson, Y Zheng, AC McCalla-Martin, LM Treanor, ... Oxford University Press for The Company of Biologists Limited 136 (12), 2081 …, 2009 | 33 | 2009 |
Tgfβ signaling directly induces Arf promoter remodeling by a mechanism involving Smads 2/3 and p38 MAPK Y Zheng, YD Zhao, M Gibbons, T Abramova, PY Chu, JD Ash, ... Journal of biological chemistry 285 (46), 35654-35664, 2010 | 29 | 2010 |
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder S Kour, DS Rajan, TR Fortuna, EN Anderson, C Ward, Y Lee, S Lee, ... Nature communications 12 (1), 2558, 2021 | 28 | 2021 |
Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G AJ Lee, KA Jones, RJ Butterfield, MO Cox, CG Konersman, C Grosmann, ... Neurology: Genetics 5 (2), e315, 2019 | 15 | 2019 |
Spinal muscular atrophy (SMA) in the therapeutic era M Gibbons, A Stratton, J Parsons Current Genetic Medicine Reports 7, 162-167, 2019 | 4 | 2019 |
An objective method for evaluating next-generation sequencing panels K Angione, M Gibbons, S Demarest Journal of Child Neurology 34 (3), 139-143, 2019 | 3 | 2019 |
Epilepsy panels in clinical practice: Yield, variants of uncertain significance, and treatment implications DC Brock, M Abbott, L Reed, R Kammeyer, M Gibbons, K Angione, ... Epilepsy Research 193, 107167, 2023 | 1 | 2023 |
Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening M Lietsch, K Chan, J Taylor, BH Lee, E Ciafaloni, JM Kwon, MA Waldrop, ... International Journal of Neonatal Screening 10 (2), 34, 2024 | | 2024 |
P. 220 Neuropsychological functioning in CMT type 2Z: A case report of language deficits masquerading as intellectual disability A Miele, M Yang, S Apkon, C Silver, M Gibbons, H Foster, A Ballard Neuromuscular Disorders 32, S135, 2022 | | 2022 |
GP 272: Novel deletions in TPM3 define a hypercontractile phenotype with marked congenital muscle stiffness: Expanding the spectrum of TPM3 related disease S Donkervoort, M Neu, J Kirschner, ML Yang, SB Marston, MA Gibbons, ... Neuromuscular Disorders 24 (9), 898-899, 2014 | | 2014 |
DIFFERENTIATION THERAPY IN RHABDOMYOSARCOMA: DEVELOPING A HIGH THROUGHPUT SCREEN FOR SKELETAL MUSCLE DIFFERENTIATION D Dighe, M Gibbons, A Zelivianskaia, S Skapek PEDIATRIC BLOOD & CANCER 54 (6), 848-848, 2010 | | 2010 |